The MEFV gene homepage

In collaboration with the Infevers autoinflammatory disorders (AID) databases.
General information
Gene symbol MEFV
Gene name Mediterranean fever
Chromosome 16
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_007871.1
Transcript reference NM_000243.2
Exon/intron information NM_000243.2 exon/intron table
Associated with diseases FMF, FMFD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Isabelle Touitou and Guillaume Sarrabay
Total number of public variants reported 596
Unique public DNA variants reported 309
Individuals with public variants 411
Hidden variants 73
Notes Reference sequence NG_011706.1 is identical to LRG_495
Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated April 12, 2021
Version MEFV:210412

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000243.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Infevers MEFV database
HGNC 6998
Entrez Gene 4210
PubMed articles MEFV
OMIM - Gene 608107
OMIM - Diseases FMF (fever, Mediterranean, familial, autosomal recessive (FMF))
FMFD (fever, Mediterranean, familial, autosomal dominant (FMFD))
GeneCards MEFV
GeneTests MEFV
Orphanet MEFV

Active transcripts




NCBI ID     

NCBI Protein ID     

00000114 16 Mediterranean fever, transcript variant 1 NM_000243.2 NP_000234.1 596

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2010-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.